CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease

被引：33

作者：

Abe, Y

Tanaka, F

Matsumoto, M

Doyu, M

Hirayama, M

Kachi, T

Sobue, G ^{[1
]}

机构：

[1] Nagoya Univ, Sch Med, Dept Neurol, Nagoya, Aichi 466, Japan

[2] Fukui Med Univ, Dept Internal Med 2, Fukui, Japan

[3] Chubu Natl Hosp, Dept Neurol, Aichi, Japan

来源：

NEUROLOGY | 1998年 / 51卷 / 03期

关键词：

D O I：

10.1212/WNL.51.3.882

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We compared the CAG repeat length and the severity of the brainstem and cerebellar atrophy visualized by MRI in 30 patients with Machado-Joseph disease. We found a strong correlation between the CAG repeat number and the quotient of the degree of atrophy divided by age at examination. These results suggest that the rate of disease progression is dependent on the CAG repeat size and disease progression may commence at birth.

引用

收藏

页码：882 / 884

页数：3

相关论文

共 9 条

[1] Trinucleotide repeat length and clinical progression in Huntington's disease [J].

Brandt, J ;

Bylsma, FW ;

Gross, R ;

Stine, OC ;

Ranen, N ;

Ross, CA .

NEUROLOGY, 1996, 46 (02) :527-531

[2] SEVERITY OF X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY CORRELATES WITH SIZE OF THE TANDEM CAG REPEAT IN ANDROGEN RECEPTOR GENE [J].

DOYU, M ;

SOBUE, G ;

MUKAI, E ;

KACHI, T ;

YASUDA, T ;

MITSUMA, T ;

TAKAHASHI, A .

ANNALS OF NEUROLOGY, 1992, 32 (05) :707-710

[3] Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease [J].

Furtado, S ;

Suchowersky, O ;

Rewcasle, NB ;

Graham, L ;

Klimek, ML ;

Garber, A .

ANNALS OF NEUROLOGY, 1996, 39 (01) :132-136

[4] CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1 [J].

KAWAGUCHI, Y ;

OKAMOTO, T ;

TANIWAKI, M ;

AIZAWA, M ;

INOUE, M ;

KATAYAMA, S ;

KAWAKAMI, H ;

NAKAMURA, S ;

NISHIMURA, M ;

AKIGUCHI, I ;

KIMURA, J ;

NARUMIYA, S ;

KAKIZUKA, A .

NATURE GENETICS, 1994, 8 (03) :221-228

[5] Repeat length and disease progression in spinocerebellar ataxia type 3 [J].

Klockgether, T ;

Kramer, B ;

Ludtke, R ;

Schols, L ;

Laccone, F .

LANCET, 1996, 348 (9030) :830-830

[6] CLINICAL-CRITERIA FOR DIAGNOSIS OF MACHADO-JOSEPH DISEASE - REPORT OF A NON-AZOREAN PORTUGUESE FAMILY [J].

LIMA, L ;

COUTINHO, P .

NEUROLOGY, 1980, 30 (03) :319-322

[7] MOLECULAR-FEATURES OF THE CAG REPEATS AND CLINICAL MANIFESTATION OF MACHADO-JOSEPH DISEASE [J].

MARUYAMA, H ;

NAKAMURA, S ;

MATSUYAMA, Z ;

SAKAI, T ;

DOYU, M ;

SOBUE, G ;

SETO, M ;

TSUJIHATA, M ;

OHI, T ;

NISHIO, T ;

SUNOHARA, N ;

TAKAHASHI, R ;

HAYASHI, M ;

NISHINO, I ;

OHTAKE, T ;

ODA, T ;

NISHIMURA, M ;

SAIDA, T ;

MATSUMOTO, H ;

BABA, M ;

KAWAGUCHI, Y ;

KAKIZUKA, A ;

KAWAKAMI, H .

HUMAN MOLECULAR GENETICS, 1995, 4 (05) :807-812

[8] CAG repeat number governs the development rate of pathology in Huntington's disease [J].

Penney, JB ;

Vonsattel, JP ;

MacDonald, ME ;

Gusella, JF ;

Myers, RH .

ANNALS OF NEUROLOGY, 1997, 41 (05) :689-692

[9] X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY - CLINICAL PHENOTYPES AND CAG REPEAT SIZE IN ANDROGEN RECEPTOR GENE [J].

SHIMADA, N ;

SOBUE, G ;

DOYU, M ;

YAMAMOTO, K ;

YASUDA, T ;

MUKAI, E ;

KACHI, T ;

MITSUMA, T .

MUSCLE & NERVE, 1995, 18 (12) :1378-1384